Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
J Neurol Neurosurg Psychiatry. 2013 Mar;84(3):329-36. doi: 10.1136/jnnp-2012-303960. Epub 2013 Jan 10.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease of the brain caused by mutations in the NOTCH3 gene. CADASIL progresses, in some cases, to subcortical dementia with a particular cognitive impairment. Different diseases in the dementia spectrum share a central cholinergic and sensorimotor plasticity alteration. We aimed to study different intracortical circuits and sensorimotor plasticity in CADASIL patients using transcranial magnetic stimulation protocols, and to determine whether these characteristics correlated with the results of clinical neuropsychological evaluation.
Ten CADASIL patients and 10 healthy subjects were included in the study. All subjects underwent a transcranial magnetic stimulation study examining different intracortical circuits. Sensorimotor plasticity was also assessed using a paired associative stimulation and extensive neuropsychological tests.
CADASIL patients showed a lack of intracortical facilitation, short latency afferent inhibition and sensorimotor plasticity when compared with control subjects. CADASIL patients also showed an altered neuropsychological profile. Correlation between sensorimotor plasticity and neuropsychological alterations was observed in CADASIL patients.
These results suggest that acetylcholine and glutamate could be involved in the dementia process in CADASIL and that abnormal sensorimotor plasticity correlates with the neuropsychological profile in CADASIL patients.
伴皮质下梗死和白质脑病的常染色体显性脑动脉病（CADASIL）是一种由 NOTCH3 基因突变引起的脑小血管疾病。在某些情况下，CADASIL 会进展为皮质下痴呆，并伴有特定的认知障碍。痴呆谱中的不同疾病共享中央胆碱能和感觉运动可塑性改变。我们旨在使用经颅磁刺激方案研究 CADASIL 患者的不同皮质内回路和感觉运动可塑性，并确定这些特征是否与临床神经心理学评估的结果相关。
本研究纳入了 10 名 CADASIL 患者和 10 名健康对照者。所有受试者均接受了经颅磁刺激研究，以检查不同的皮质内回路。还使用成对关联刺激和广泛的神经心理学测试评估了感觉运动可塑性。
与对照组相比，CADASIL 患者表现出皮质内易化缺乏、短潜伏期传入抑制和感觉运动可塑性。CADASIL 患者还表现出改变的神经心理学特征。在 CADASIL 患者中观察到感觉运动可塑性与神经心理学改变之间的相关性。
这些结果表明，乙酰胆碱和谷氨酸可能参与了 CADASIL 的痴呆过程，并且异常的感觉运动可塑性与 CADASIL 患者的神经心理学特征相关。
